RT Journal Article
SR Electronic
T1 Familial cases of idiopathic pulmonary fibrosis: Clinical observation
JF European Respiratory Journal
JO Eur Respir J
FD European Respiratory Society
SP p2007
VO 38
IS Suppl 55
A1 Lubov Novikova
A1 Yulia Ilkovich
A1 Michail Ilkovich
YR 2011
UL http://erj.ersjournals.com/content/38/Suppl_55/p2007.abstract
AB Background: Idiopathic pulmonary fibrosis (IPF) is a chronic, progressive, often fatal interstitial lung disease of unknown etiology. Familial idiopathic pulmonary fibrosis (FIPF) is defined when two or more affected individuals are identified in one family. FIPF accounts for 0.5-2.2% of all IPF cases.Results: We found 10 FIPF patients in 5 families among totally observed 475 IPF cases. There were 3 pairs of siblings (2 males and 4 females) and 2 pairs of mother and daughter. FIPF was diagnosed according to ATS/ERS criteria, histologically proven in 9 of 10 subjects. The mean age of IPF manifestation appears to be low: 37±5.3 years. All patients were treated by systemic corticosteroids, 4 of 10 - in combination with cytotoxic agents. 2 of 10 (mother and daughter in one family) have rather favorable course of IPF and are alive. The rest 8 cases had rapid severe progression of disease. Among them two patients are still alive, but demonstrate severe deterioration of their conditions, 6 - died within five years since first symptoms of disease occurred. The cause of death was progressive respiratory failure in 4 cases, respiratory failure with pneumonia in one case and lung cancer in another case.Conclusion: 2.1% of our cohort of IPF patients has familial history of pulmonary fibrosis. Although rare, such cases represent an important subgroup in which genetic susceptibility to lung fibrosis plays a significant role. FIPF appears histologically indistinguishable from non-familial forms, but characterized by younger age of onset, resistance to treatment, progressive course and unfavorable prognosis. Molecular genetic analysis could improve our understanding of the pathogenic mechanisms of IPF.